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Results for "NBEA"

Variant Events: 32

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
NBEA     Lim2017:37355chr13:
36129146-36129146
CTexonicDe novostopgainNM_001204197
NM_015678
c.C208T
c.C6829T
p.R70X
p.R2277X
51.0-Lim2017 E
NBEA     21879-36229chr13:
35632895-35632895
TGexonicInheritednonsynonymous SNVNM_015678c.T1134Gp.D378E20.7-Callaghan2019 G
NBEA     118_15mrchr13:
35734187-35734187
ATintronicDe novo--Satterstrom2020 E
NBEA     AU2089301chr13:
35728873-35728873
CTintronicDe novo--Yuen2017 G
NBEA     7-0168-003chr13:
35886841-35886841
ACintronicDe novo--Yuen2017 G
NBEA     AU4006302chr13:
35643070-35643070
CTintronicDe novo--Yuen2017 G
NBEA     1-0357-003chr13:
35566769-35566769
TCintronicDe novo--Yuen2017 G
NBEA     AU4487302chr13:
35654625-35654625
TCintronicDe novo--Yuen2017 G
NBEA     AU060803chr13:
35960352-35960352
ACintronicDe novo--Yuen2017 G
NBEA     ASC_CA_183_Achr13:
35517274-35517274
AGintronicDe novo-1.0E-4Satterstrom2020 E
NBEA     7-0254-003chr13:
35682543-35682543
ATintronicDe novo--Yuen2017 G
NBEA     AU011604chr13:
35730288-35730288
CTexonicUnknownnonsynonymous SNVNM_015678c.C2596Tp.R866C25.11.628E-5Stessman2017 T
NBEA     217-14383-1300chr13:
36006453-36006453
GAexonicPaternalnonsynonymous SNVNM_015678c.G6227Ap.R2076H35.0-Stessman2017 T
NBEA     GX0291.p1chr13:
35622758-35622758
CTexonicMaternalnonsynonymous SNVNM_015678c.C782Tp.T261I32.0-Guo2018 T
NBEA     2-1501-003chr13:
36020353-36020353
TCintronicDe novo--Yuen2017 G
NBEA     1-0579-003chr13:
35881649-35881656
ATTTTTTTATTTTTTTTintronicDe novo--Yuen2017 G
NBEA     1-0673-003chr13:
35933518-35933524
CTCTTTCCTCintronicDe novo--Yuen2017 G
NBEA     M32095chr13:
35730285-35730285
CTexonicMaternalnonsynonymous SNVNM_015678c.C2593Tp.R865C30.0-Guo2018 T
NBEA     SP0003496chr13:
35615208-35615208
CTexonicDe novostopgainNM_015678c.C433Tp.R145X43.0-Feliciano2019 E
NBEA     1-0389-003chr13:
36241515-36241515
CTexonicDe novosynonymous SNVNM_001204197
NM_015678
c.C1785T
c.C8406T
p.G595G
p.G2802G
-8.331E-6Yuen2015 G
NBEA     7-0102-003chr13:
35761627-35761627
TCintronicDe novo--Yuen2017 G
NBEA     AU4378301chr13:
35637055-35637055
GAintronicDe novo--Yuen2017 G
NBEA     ASDFI_782chr13:
36180647-36180647
GAexonicDe novononsynonymous SNVNM_001204197
NM_015678
c.G760A
c.G7381A
p.V254M
p.V2461M
12.49-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
NBEA     AU3779302chr13:
35618972-35618972
GTintronicDe novo--Yuen2017 G
NBEA     AU2427301chr13:
35530296-35530296
CGintronicDe novo--Yuen2017 G
NBEA     1-0464-003chr13:
35588186-35588186
CAintronicDe novo--Yuen2016 G
Yuen2017 G
NBEA     AU4483301chr13:
35679092-35679092
AGintronicDe novo--Yuen2017 G
NBEA     7-0100-004chr13:
35747988-35747988
AAACTGTTATTintronicDe novo--Yuen2017 G
NBEA     13761.p1chr13:
36129146-36129146
CTexonicDe novostopgainNM_001204197
NM_015678
c.C208T
c.C6829T
p.R70X
p.R2277X
51.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
NBEA     AU0146302chr13:
35781931-35781931
CTintronicDe novo--Yuen2017 G
NBEA     HN0105.p1chr13:
35624411-35624411
GAexonicBoth parentsnonsynonymous SNVNM_015678c.G851Ap.R284H34.08.837E-6Guo2018 T
NBEA     08C78393chr13:
36006374-36006374
AGintronicDe novo--Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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